Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with trichothiodystrophy who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with trichothiodystrophy.
To determine the longitudinal association between serial biomarker measures of circulating omega 3 polyunsaturated fatty acid (n3-PUFA) levels and healthy ageing.
To determine the effects of diets varying in carbohydrate to fat ratio on total energy expenditure.
To explore associations between pre-eclampsia and later dementia, overall and by dementia subtype and timing of onset.
Quantitative and evidence-based approaches fail to capture “the whole person,” neglect the important contributions of nonquantitative variables to understanding behavior, and have limitations when assessing individuals who fall outside traditional normative groups. The emphasis on quantitative and evidence-based practices is one challenge facing the profession. The lack of consensual definitions for various domains of interest is a second challenge, because it hinders research, poses communication challenges, and impedes the accumulation of knowledge about human behavior. A third challenge the profession faces is an overemphasis on the biological basis of behavior. Finally, the forth challenge is the impact of technology on practice. Since the 1970s, there has been a rapid advance in our ability to investigate the brain, resulting in a significant increase of information about brain functioning, making it difficult for clinicians to stay abreast of changes in the field. Advances in technology have resulted in “assessments” being completed by nonpsychologists. To place these and related challenges in context, a brief review of the history of assessment and efforts to investigate brain functioning will be presented. It is suggested that failure to meet these challenges will contribute to the demise of the profession. Suggestions for meeting these challenges are offered.
The rise in food allergy has been described as the “second wave” of the allergy epidemic, with some developed countries reporting a prevalence of 10% of challenge proven food allergies. Recognition of the Allergic March has played a crucial role in identifying causality in allergic conditions, linking atopic dermatitis to food allergy and food allergy to other atopic disorders, thereby highlighting opportunities in prevention and the importance of early intervention. This publication will establish the value of weaving the less well understood, non-IgE mediated, food allergy into the Allergic March and mapping its progression through childhood and its associated co-morbidities. The proposed non-IgE mediated Allergic March highlights the concomitant presentation of gastrointestinal symptoms and atopic dermatitis as early presenting symptoms in confirmed non-IgE mediated allergies and the later development of atopic co-morbidities including asthma and allergic rhinitis, similar to the IgE-mediated Allergic March. This publication highlights recent observations of a link between non-IgE mediated food allergy in early childhood and functional gastrointestinal disorders in later life and also the reported occurrence of extra-intestinal manifestations at later ages. Although significant limitations exist in regards to the proposed evolution of the Allergic March model, the authors hope that this publication will influence the management of non-IgE mediated gastrointestinal allergies and inform future research and interventions. This article is protected by copyright. All rights reserved.
Arabidopsis thaliana NGATHA1 transcription factor induces ABA biosynthesis by activating NCED3 gene during dehydration stress
- Proceedings of the National Academy of Sciences of the United States of America
- Published 12 days ago
The plant hormone abscisic acid (ABA) is accumulated after drought stress and plays critical roles in the responses to drought stress in plants, such as gene regulation, stomatal closure, seed maturation, and dormancy. Although previous reports revealed detailed molecular roles of ABA in stress responses, the factors that contribute to the drought-stress responses-in particular, regulation of ABA accumulation-remain unclear. The enzyme NINE-CIS-EPOXYCAROTENOID DIOXYGENASE 3 (NCED3) is essential for ABA biosynthesis during drought stress, and the NCED3 gene is highly induced by drought stress. In the present study, we isolated NGATHAs (NGAs) as candidate transcriptional regulators of NCED3 through a screen of a plant library harboring the transcription factors fused to a chimeric repressor domain, SRDX. The NGA proteins were directly bound to a cis-element NGA-binding element (NBE) in the 5' untranslated region (5' UTR) of the NCED3 promoter and were suggested to be transcriptional activators of NCED3 Among the single-knockout mutants of four NGA family genes, we found that the NGATHA1 (NGA1) knockout mutant was drought-stress-sensitive with a decreased expression level of NCED3 during dehydration stress. These results suggested that NGA1 essentially functions as a transcriptional activator of NCED3 among the NGA family proteins. Moreover, the NGA1 protein was degraded under nonstressed conditions, and dehydration stress enhanced the accumulation of NGA1 proteins, even in ABA-deficient mutant plants, indicating that there should be ABA-independent posttranslational regulations. These findings emphasize the regulatory mechanisms of ABA biosynthesis during early drought stress.
The current study examined the relation between women’s food intake and their conformity to feminine norms after a negative mood induction, as well as the potential moderating role of expressive suppression. Female participants (N = 197) watched a sad movie clip, partook in a taste test in which they consumed potato chips and chocolate, and completed a survey with questions designed to assess conformity to feminine norms and the use of expressive suppression in daily life. Regression analyses revealed that increased conformity to the feminine norm of modesty was associated with reduced food intake, whereas conformity to the feminine norms of thinness and appearance were not. Expressive suppression did not moderate any of these relations. Overall, this study affirms the importance of understanding how overarching cultural norms such as femininity influence women’s food consumption.
The clinical practice guidelines on pregnancy care have been developed to provide reliable and standardised guidance for health professionals providing antenatal care in Australia. They were originally released as the Clinical Practice Guidelines: Antenatal Care in two separate editions (modules 1 and 2) in 2012 and 2014. These modules have now been combined and updated to form a single set of consolidated guidelines that were publicly released in February 2018 as the Clinical Practice Guidelines: Pregnancy Care. Eleven topics have been updated and new guidance on substance use in pregnancy has been added. Main recommendations: The updated guidelines include the following key changes to practice: recommend routine testing for hepatitis C at the first antenatal visit; recommend against routine testing for vitamin D status in the absence of a specific indication; recommend discussing weight change, diet and physical activity with all pregnant women; and recommend offering pregnant women the opportunity to be weighed at every antenatal visit and encouraging women to self-monitor weight gain. Changes in management as a result of the guidelines: The guidelines will enable pregnant women diagnosed with hepatitis C to be identified and thus avoid invasive procedures that increase the risk of mother-to-baby transmission. Women can be treated postpartum, reducing the risk of liver disease and removing the risk of perinatal infection for subsequent pregnancies. Routine testing of all pregnant women for vitamin D status and subsequent vitamin D supplementation is not supported by evidence and should cease as the benefits and harms of vitamin D supplementation remain unclear. The recommendation for health professionals to provide advice to pregnant women about weight, diet and physical activity, and the opportunity to be weighed will help women to make changes leading to better health outcomes for themselves and their babies.
- The Journal of orthopaedic and sports physical therapy
- Published 17 days ago
Predatory journals are compromising the scientific credibility of “published” research. Past concerns with predatory journals have included the lack of a peer-review process, lack of an editorial board, and little to no description of the publication’s ethical standards. In this editorial, we describe the ease with which bogus information can be published in predatory journals, and outline 3 risks to credible science associated with published information and downstream referencing, which may occur through source amnesia bias. J Orthop Sports Phys Ther 2018;48(11):830-832. doi:10.2519/jospt.2018.0107.